Mutagenetix > Incidental Mutation

Incidental Mutation 'R8076:Rbpj'

629015

Institutional Source

Beutler Lab

Gene Symbol

Rbpj

Ensembl Gene

ENSMUSG00000039191

Gene Name

recombination signal binding protein for immunoglobulin kappa J region

Synonyms

Igkrsbp, RBPjk, Igkjrb, RBP-J kappa, Rbpsuh, CBF1

MMRRC Submission

067510-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53713121-53814787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53799479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 129 (I129T)

Ref Sequence

ENSEMBL: ENSMUSP00000040694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037618] [ENSMUST00000087360] [ENSMUST00000113865] [ENSMUST00000201883] [ENSMUST00000201912] [ENSMUST00000201991]

AlphaFold

P31266

PDB Structure

CSL (RBP-Jk) bound to DNA [X-RAY DIFFRACTION]
CSL (RBP-Jk) bound to HES-1 nonconsensus site [X-RAY DIFFRACTION]
CSL (RBP-Jk) with corepressor KyoT2 bound to DNA [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000037618
AA Change: I129T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040694
Gene: ENSMUSG00000039191
AA Change: I129T

Domain	Start	End	E-Value	Type
LAG1_DNAbind	73	204	2.97e-86	SMART
BTD	205	354	8.01e-92	SMART
SCOP:d1a02n1	380	472	8e-29	SMART
low complexity region	508	526	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087360
AA Change: I88T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000084618
Gene: ENSMUSG00000039191
AA Change: I88T

Domain	Start	End	E-Value	Type
LAG1_DNAbind	32	163	2.97e-86	SMART
BTD	164	313	8.01e-92	SMART
Pfam:TIG	340	429	3.6e-9	PFAM
low complexity region	467	485	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113865
AA Change: I90T

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109496
Gene: ENSMUSG00000039191
AA Change: I90T

Domain	Start	End	E-Value	Type
LAG1_DNAbind	34	165	2.97e-86	SMART
BTD	166	315	8.01e-92	SMART
Pfam:TIG	342	431	6.1e-9	PFAM
low complexity region	469	487	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201883
AA Change: I68T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143846
Gene: ENSMUSG00000039191
AA Change: I68T

Domain	Start	End	E-Value	Type
LAG1_DNAbind	12	143	2.3e-90	SMART
BTD	144	293	6e-96	SMART
SCOP:d1a02n1	319	411	4e-29	SMART
low complexity region	447	465	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201912
AA Change: I110T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143866
Gene: ENSMUSG00000039191
AA Change: I110T

Domain	Start	End	E-Value	Type
LAG1_DNAbind	54	185	2.97e-86	SMART
BTD	186	335	8.01e-92	SMART
SCOP:d1a02n1	361	453	6e-29	SMART
low complexity region	489	507	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201991
AA Change: I98T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144617
Gene: ENSMUSG00000039191
AA Change: I98T

Domain	Start	End	E-Value	Type
LAG1_DNAbind	42	173	2.3e-90	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.1%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit complete prenatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	T	A	8: 25,452,938 (GRCm39)	R790*	probably null	Het
Adamts13	C	A	2: 26,880,624 (GRCm39)	P736T	probably benign	Het
Aldh3b2	T	A	19: 4,028,859 (GRCm39)	F176L	possibly damaging	Het
Aldoart2	A	G	12: 55,612,696 (GRCm39)	E207G	probably benign	Het
Arid4b	A	T	13: 14,361,535 (GRCm39)	E753D	probably benign	Het
Cd160	T	A	3: 96,709,662 (GRCm39)	T158S	probably benign	Het
Cd209g	T	A	8: 4,185,195 (GRCm39)	M1K	probably null	Het
Chrm4	A	G	2: 91,758,204 (GRCm39)	Y204C	probably damaging	Het
Cyld	T	A	8: 89,456,346 (GRCm39)	N465K	probably benign	Het
Dchs1	A	T	7: 105,405,128 (GRCm39)	H2471Q	possibly damaging	Het
Dchs1	A	G	7: 105,411,189 (GRCm39)	V1612A	probably damaging	Het
Ddx24	A	G	12: 103,382,477 (GRCm39)	V702A	probably damaging	Het
Dnah8	A	G	17: 31,003,127 (GRCm39)	T3609A	possibly damaging	Het
Dock5	A	T	14: 68,040,426 (GRCm39)		probably null	Het
Dpy19l2	C	T	9: 24,591,988 (GRCm39)	R205H	probably damaging	Het
Eif3a	A	T	19: 60,762,363 (GRCm39)	D473E	probably damaging	Het
Elapor1	G	T	3: 108,399,398 (GRCm39)	T64K	probably benign	Het
Elobl	T	C	11: 88,855,796 (GRCm39)	E89G	possibly damaging	Het
Fam186a	A	T	15: 99,841,351 (GRCm39)	I1631N	possibly damaging	Het
Fbn2	C	T	18: 58,159,496 (GRCm39)	W2411*	probably null	Het
Fbxl17	A	G	17: 63,367,360 (GRCm39)	I671T	probably damaging	Het
Glul	C	T	1: 153,782,868 (GRCm39)	T193I	possibly damaging	Het
Grm7	A	G	6: 111,543,000 (GRCm39)	Y907C	probably damaging	Het
H4c16	A	G	6: 136,781,124 (GRCm39)	M85T	probably benign	Het
Hr	A	G	14: 70,795,381 (GRCm39)	T309A	probably benign	Het
Ighg3	A	G	12: 113,324,158 (GRCm39)	S110P	probably benign	Het
Llgl2	A	G	11: 115,737,755 (GRCm39)	E180G	possibly damaging	Het
Mat2b	A	T	11: 40,576,092 (GRCm39)	L112Q	probably damaging	Het
Mcoln2	T	C	3: 145,896,169 (GRCm39)	M497T	probably damaging	Het
Mmp24	C	A	2: 155,649,481 (GRCm39)	Y299*	probably null	Het
Mtor	T	C	4: 148,610,260 (GRCm39)		probably null	Het
Olig2	C	A	16: 91,023,299 (GRCm39)	D4E	probably damaging	Het
Or10ag2	A	T	2: 87,248,889 (GRCm39)	I164L	probably benign	Het
Pard3	T	C	8: 128,142,077 (GRCm39)	S878P	probably damaging	Het
Pcgf5	C	T	19: 36,417,483 (GRCm39)	P137L	probably damaging	Het
Pck1	A	G	2: 172,997,071 (GRCm39)	N238D	probably damaging	Het
Pstpip1	T	C	9: 56,035,064 (GRCm39)	S346P	probably benign	Het
Qsox2	G	A	2: 26,114,897 (GRCm39)	H40Y	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Saal1	G	A	7: 46,360,031 (GRCm39)	P9L	probably benign	Het
Sema3c	A	G	5: 17,932,362 (GRCm39)	I622V	probably benign	Het
Sigirr	C	T	7: 140,671,785 (GRCm39)	V333M	probably benign	Het
Sort1	T	C	3: 108,246,183 (GRCm39)	S387P	probably damaging	Het
Spata31h1	A	C	10: 82,132,520 (GRCm39)	Y163*	probably null	Het
Spta1	T	A	1: 174,014,797 (GRCm39)	S426T	probably benign	Het
Stag3	G	A	5: 138,281,404 (GRCm39)	S124N	probably damaging	Het
Stard10	A	G	7: 100,993,176 (GRCm39)	Y244C	probably damaging	Het
Tcea3	T	A	4: 135,995,440 (GRCm39)	I261N	probably damaging	Het
Tdrd1	A	G	19: 56,832,267 (GRCm39)	K395E	probably damaging	Het
Tenm2	T	A	11: 35,918,048 (GRCm39)	D1905V	probably benign	Het
Trim12c	T	C	7: 103,990,037 (GRCm39)	Y480C	unknown	Het
Trip11	A	G	12: 101,849,741 (GRCm39)	V1441A	probably damaging	Het
Ttc21a	G	A	9: 119,795,392 (GRCm39)	R1107Q	probably benign	Het
Wdr41	A	G	13: 95,153,838 (GRCm39)	I296V	probably benign	Het
Zdbf2	T	A	1: 63,345,260 (GRCm39)	V1213E	possibly damaging	Het
Zfp37	T	C	4: 62,109,553 (GRCm39)	N545D	possibly damaging	Het

Other mutations in Rbpj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01895:Rbpj	APN	5	53,808,728 (GRCm39)	missense	probably damaging	1.00
IGL02537:Rbpj	APN	5	53,799,485 (GRCm39)	missense	probably damaging	1.00
R0676:Rbpj	UTSW	5	53,803,390 (GRCm39)	splice site	probably benign
R2372:Rbpj	UTSW	5	53,799,537 (GRCm39)	splice site	probably benign
R3814:Rbpj	UTSW	5	53,810,514 (GRCm39)	nonsense	probably null
R4153:Rbpj	UTSW	5	53,806,789 (GRCm39)	missense	probably damaging	1.00
R5023:Rbpj	UTSW	5	53,806,757 (GRCm39)	missense	probably damaging	1.00
R5240:Rbpj	UTSW	5	53,806,782 (GRCm39)	missense	probably damaging	1.00
R5341:Rbpj	UTSW	5	53,799,425 (GRCm39)	missense	possibly damaging	0.71
R6088:Rbpj	UTSW	5	53,808,710 (GRCm39)	splice site	probably null
R6885:Rbpj	UTSW	5	53,810,493 (GRCm39)	missense	probably damaging	1.00
R7493:Rbpj	UTSW	5	53,758,276 (GRCm39)	missense	probably benign	0.19
R7653:Rbpj	UTSW	5	53,747,693 (GRCm39)	start codon destroyed	probably null
R7703:Rbpj	UTSW	5	53,803,240 (GRCm39)	missense	probably damaging	1.00
R7893:Rbpj	UTSW	5	53,803,216 (GRCm39)	missense	probably damaging	1.00
R9028:Rbpj	UTSW	5	53,807,032 (GRCm39)	missense	possibly damaging	0.95
R9284:Rbpj	UTSW	5	53,810,724 (GRCm39)	missense	probably damaging	0.97
R9290:Rbpj	UTSW	5	53,810,745 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGCTATGTTAGGGACCAATTTAG -3'
(R):5'- AGCTGTCCTGAAGGTATACTTGTG -3'

Sequencing Primer
(F):5'- TGTTAGGGACCAATTTAGTACATTG -3'
(R):5'- TCCTGAAGGTATACTTGTGATTCTG -3'

Posted On

2020-06-30